Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Cites (212)

Items 201–220 of 220

  1. Strand-seq enables reliable separation of long reads by chromosome via expectation maximization
    Maryam Ghareghani, David Porubskỳ, Ashley D. Sanders, Sascha Meiers, Evan E. Eichler, Jan O. Korbel, Tobias Marschall · 2018 · Bioinformatics
  2. Ultra-long Read Sequencing for Whole Genomic DNA Analysis
    Liang Gong, Chee‐Hong Wong, Jennifer Idol, Chew Yee Ngan, Chia‐Lin Wei · 2019 · Journal of Visualized Experiments
  3. Pangenome-based genome inference
    Jana Ebler, Wayne E. Clarke, Tobias Rausch · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  4. Genetics of heart rate in heart failure patients (GenHRate)
    Kaleigh L. Evans, Heidi S. Wirtz, Jia Li, Ruicong She, Juan Francisco Maya, Hongsheng Gui, Andrew W. Hamer, Christophe Depré, David E. Lanfear · 2019 · Human Genomics
  5. Abstract 2287: Precise common and rare germline CNV calling with GATK
    Mehrtash Babadi, Samuel K. Lee, Andrey N. Smirnov, Lee Lichtenstein, Laura Doyle Gauthier, Daniel P. Howrigan, Timothy Poterba · 2018 · Cancer Research
  6. FAST AND CHEAP GENOME WIDE HAPLOTYPE CONSTRUCTION VIA OPTICAL MAPPING
    Thomas Anantharaman, Venkatesh Mysore, B. MISHRA · 2004 · Pacific Symposium on Biocomputing (PSB)
  7. Estimating the age of retrotransposon subfamilies using maximum likelihood
    Elizabeth Blue, Jinchuan Xing, David J. Witherspoon, Lynn B. Jorde, Alan R. Rogers · 2009 · Genomics
  8. Systematic assessment of regulatory effects of human disease variants in pluripotent cells
    Marc Jan Bonder, Craig Smail, Michael J. Gloudemans et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  9. lra: the Long Read Aligner for Sequences and Contigs
    Jingwen Ren, Mark Chaisson · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  10. Long-read genome sequencing for the diagnosis of neurodevelopmental disorders
    Susan M. Hiatt, James M.J. Lawlor, Lori H. Handley et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  11. Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
    Tsung-Yu Tony Lu, Mark Chaisson · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  12. Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants
    Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine Randall Paschal, Jenny M. Thies et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  13. Ebola raises profile of blood-based therapy
    Declan Butler · 2014 · Nature
  14. Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms
    Xiaolan Lin, Huifang Huang, Ping Chen · 2020 · Molecular Cytogenetics
  15. Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly
    Xuefang Zhao, Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu, Ben Weisburd, Yongqing Huang, Peter A. Audano, Harold Wang et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  16. HGSVC2 project code contributions
    Ebert, Peter · 2021 · Figshare
  17. Prof. Victor Meyer'S New Method of Determining High Melting Points
    Alfred Edwin Howard Tutton · 1894 · Nature
  18. HGSVC2 project code contributions
    Peter Ebert · 2021 · Zenodo (CERN European Organization for Nuclear Research)
  19. HGSVC2 full eQTL results
    Marc Jan Bonder · 2020 · Zenodo (CERN European Organization for Nuclear Research)
  20. MEIGA-tk/MEIGA-PAV: MEIGA-PAV 0.5.0
    Martín, Bernardo Rodríguez · 2021 · Zenodo (CERN European Organization for Nuclear Research)